TY  - GEN
AU  - Hamajima,Naoki
AU  - Johmura,Yoshikazu
AU  - Suzuki,Satoshi
AU  - Nakanishi,Makoto
AU  - Saitoh,Shinji
TI  - Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome
SN  - 1932-6203
PY  - 2014///0512
KW  - Adrenal Insufficiency
KW  - Base Sequence
KW  - Blotting, Western
KW  - Cyclin-Dependent Kinase Inhibitor p57
KW  - genetics
KW  - Cycloheximide
KW  - Exome
KW  - Female
KW  - Fetal Growth Retardation
KW  - Flow Cytometry
KW  - Gene Components
KW  - Humans
KW  - Leupeptins
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Osteochondrodysplasias
KW  - Pedigree
KW  - Phenotype
KW  - Proliferating Cell Nuclear Antigen
KW  - metabolism
KW  - Protein Stability
KW  - Sequence Analysis, DNA
KW  - Siblings
KW  - Urogenital Abnormalities
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1371/journal.pone.0075137
ER  -